ARCI8
MCID: ICH044
MIFTS: 28

Ichthyosis, Congenital, Autosomal Recessive 8 (ARCI8)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 8

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 8:

Name: Ichthyosis, Congenital, Autosomal Recessive 8 57 72 13 70
Autosomal Recessive Congenital Ichthyosis 8 12 29 6
Arci8 57 12 72
Late-Onset Lamellar Ichthyosis 12 72
Lamellar Ichthyosis 4 12 72
Ichthyosis, Congenital, Autosomal Recessive, Type 8 39
Ichthyosis, Lamellar, 4, Formerly; Li4, Formerly 57
Ichthyosis, Lamellar, 4, Formerly 57
Lamellar Ichthyosis, Late-Onset 57
Li4, Formerly 57
Li4 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
skin appears normal at birth, with development of generalized ichthyosis in childhood


HPO:

31
ichthyosis, congenital, autosomal recessive 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060717
OMIM® 57 613943
OMIM Phenotypic Series 57 PS242300
MeSH 44 D017490
ICD10 32 Q80.2
UMLS 70 C3553029

Summaries for Ichthyosis, Congenital, Autosomal Recessive 8

OMIM® : 57 Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (613943) (Updated 20-May-2021)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 8, also known as autosomal recessive congenital ichthyosis 8, is related to alzheimer disease and bell's palsy. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 8 is LIPN (Lipase Family Member N). Affiliated tissues include skin, eye and spinal cord, and related phenotypes are hyperkeratosis and erythema

Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has material basis in homozygous mutation in the LIPN gene on chromosome 10q23.

UniProtKB/Swiss-Prot : 72 Ichthyosis, congenital, autosomal recessive 8: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 8

Graphical network of the top 20 diseases related to Ichthyosis, Congenital, Autosomal Recessive 8:



Diseases related to Ichthyosis, Congenital, Autosomal Recessive 8

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 8

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 8:

31 (showing 6, show less)
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 31 HP:0000962
2 erythema 31 HP:0010783
3 congenital ichthyosiform erythroderma 31 HP:0007431
4 epidermal acanthosis 31 HP:0025092
5 hypergranulosis 31 HP:0025114
6 orthokeratosis 31 HP:0040162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin Histology:
hyperkeratosis
hypergranulosis
orthokeratosis
acanthosis

Skin Nails Hair Skin:
ichthyosis, diffuse lamellar
fine whitish scales over entire surface of skin
slight erythema of face

Clinical features from OMIM®:

613943 (Updated 20-May-2021)

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 8

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 8

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 8

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 8:

# Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 8 29 LIPN

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 8

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 8:

40
Skin, Eye, Spinal Cord

Publications for Ichthyosis, Congenital, Autosomal Recessive 8

Articles related to Ichthyosis, Congenital, Autosomal Recessive 8:

(showing 7, show less)
# Title Authors PMID Year
1
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. 57 6
21439540 2011
2
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 57
20643494 2010
3
Autosomal recessive congenital ichthyosis. 57
19434086 2009
4
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 57
16436457 2006
5
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 57
16116617 2005
6
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. 57
12780701 2003
7
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. 57
10712205 2000

Variations for Ichthyosis, Congenital, Autosomal Recessive 8

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 8:

6 (showing 4, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIPN NM_001102469.1(LIPN):c.397_398GA[1] (p.Glu133fs) Microsatellite Pathogenic 31088 rs759880018 GRCh37: 10:90524336-90524337
GRCh38: 10:88764579-88764580
2 LIPN NM_001102469.2(LIPN):c.205C>T (p.Arg69Ter) SNV Pathogenic 1030140 GRCh37: 10:90522041-90522041
GRCh38: 10:88762284-88762284
3 LIPN NM_001102469.2(LIPN):c.1096A>T (p.Lys366Ter) SNV Pathogenic 1032623 GRCh37: 10:90537898-90537898
GRCh38: 10:88778141-88778141
4 LIPN NM_001102469.2(LIPN):c.246T>G (p.Tyr82Ter) SNV Pathogenic 1032624 GRCh37: 10:90524186-90524186
GRCh38: 10:88764429-88764429

Expression for Ichthyosis, Congenital, Autosomal Recessive 8

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 8.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 8

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 8

Sources for Ichthyosis, Congenital, Autosomal Recessive 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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